TPRKB TP53RK binding protein
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 12 |
Likely benign | 0 | 16 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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8 |
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62 |
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6 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CGI-121 |
SYNONYM | CGI121 |
SYNONYM | GAMOS5 |
MIM | 608680 OMIM |
HGNC | HGNC:24259 HGNC |
Ensembl | ENSG00000144034 Ensembl |
AllianceGenome | HGNC:24259 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000272424.11 | hg38 | chr2 | 73,729,873 | 73,737,345 | 7,473 |
ENST00000318190.7 | hg38 | chr2 | 73,729,890 | 73,737,400 | 7,511 |
ENST00000409716.6 | hg38 | chr2 | 73,729,890 | 73,737,400 | 7,511 |
ENST00000272424.11 | hg19 | chr2 | 73,957,000 | 73,964,472 | 7,473 |
ENST00000318190.7 | hg19 | chr2 | 73,957,017 | 73,964,527 | 7,511 |
ENST00000409716.6 | hg19 | chr2 | 73,957,017 | 73,964,527 | 7,511 |
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